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Journal of Inherited Metabolic Disease

, Volume 18, Issue 2, pp 227–229 | Cite as

Riboflavin-responsive epilepsy in a patient with SER209 variant form of short-chain acyl-CoA dehydrogenase

  • S. Kmoch
  • J. Zeman
  • M. Hrebíček
  • L. Ryba
  • M. J. Kristensen
  • N. Gregersen
Short Communication

Keywords

Public Health Internal Medicine Variant Form 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. Amendt BA, Green C, Sweetman L et al (1987) Short chain acyl-coenzyme A dehydrogenase deficiency, clinical and biochemical studies in two patients.J Clin Invest 79: 1303–1309.Google Scholar
  2. Coates PM, Hale DE, Finocchiaro G, Tanaka K, Winter C (1988) Genetic deficiency of short chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness.J Clin Invest 81: 171–175.Google Scholar
  3. Kristensen MJ, Bhala A, Hale DE, Jensen TG, Gregersen N (1993) Identification of new point mutations in patients with short chain acyl-CoA dehydrogenase deficiency.Am J Hum Genet 53: A915.Google Scholar
  4. Kristensen MJ, Kmoch S, Bross P, Andresen BS, Gregersen N (1994) Amino acid polymorphism (Gly209Ser) in the ACADS gene.Hum Mol Genet,3: 1711.Google Scholar
  5. Manning NJ, Olpin SE, Pollitt RJ, Webley J (1990) A comparison of [9-10-3H]palmitic and [9-10-3H]myristic acids for the detection of defects of fatty acid oxidation in intact skin fibroblasts.J Inher Metab Dis 13: 58–68.Google Scholar
  6. Ponchaut S, van Hoof F, Veitch K (1992) In vitro effects of valproate metabolites on mitochondrial oxidation.Biochem Pharmacol 43: 2435–2442.Google Scholar
  7. Turnbull DM, Shepherd IM, Bartlett K, Sherratt HSA (1990) Short-chain acyl-CoA dehydrogenase deficiency. In Tanaka K, Coates PM, eds.Fatty Acid Oxidation: Clinical, Biochemical and Molecular Aspects. New York: Alan R. Liss, 313–324.Google Scholar
  8. Wanders RJA, van Roermund CWT, de Vries CT et al (1986) Peroxisomal β-oxidation of palmitoyl-CoA in human liver homogenate and its deficiency in the Zellweger syndrome.Clin Chim Acta 159: 1–10.Google Scholar

Copyright information

© Society for the Study of Inborn Errors of Metabolism and Kluwer Academic Publishers 1995

Authors and Affiliations

  • S. Kmoch
    • 1
  • J. Zeman
    • 1
  • M. Hrebíček
    • 1
  • L. Ryba
    • 2
  • M. J. Kristensen
    • 3
  • N. Gregersen
    • 3
  1. 1.Center for Inherited Metabolic DisordersGeneral Faculty Hospital and Charles University 1st School of MedicinePragueCzech Republic
  2. 2.Pediatrics Department of Hospital Ústí nad OrlicíCzech Republic
  3. 3.Center for Medical Molecular BiologyAarhus University HospitalDenmark

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